Canonical Allele Identifier: CA3774374
Community Standard Title: NM_182548.4(LHFPL5):c.314T>C (p.Met105Thr)
Gene: LHFPL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805984T>C , CM000668.2:g.35805984T>C GRCh38
NC_000006.11:g.35773761T>C , CM000668.1:g.35773761T>C GRCh37
NC_000006.10:g.35881739T>C NCBI36
NG_012184.1:g.5691T>C
NG_012184.2:g.5691T>C
NG_012184.3:g.13779T>C

Transcript Alleles

HGVS Amino-acid Change
NM_182548.4:c.314T>C MANE Select NP_872354.1:p.Met105Thr
ENST00000360215.3:c.314T>C MANE Select ENSP00000353346.1:p.Met105Thr
NM_182548.3:c.314T>C NP_872354.1:p.Met105Thr
ENST00000360215.2:c.314T>C ENSP00000353346.1:p.Met105Thr
ENST00000651132.1:c.314T>C ENSP00000498322.1:p.Met105Thr
ENST00000651676.1:c.314T>C ENSP00000498699.1:p.Met105Thr
ENST00000651994.1:c.314T>C ENSP00000498310.1:p.Met105Thr
ENST00000652718.1:c.146T>C ENSP00000498866.1:p.Met49Thr
XM_011514403.1:c.314T>C XP_011512705.1:p.Met105Thr